nsv6621249
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,734,887
- Publication(s):Zarrei et al. 2023
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 7174 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 7180 SVs from 125 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6621249 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 55,403,551 | 57,138,437 |
nsv6621249 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 55,171,027 | 56,905,911 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18281686 | deletion | OSC2086 | SNP array | Probe signal intensity | 5 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18281686 | Remapped | Perfect | NC_000011.10:g.(?_ 55403551)_(5713843 7_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,403,551 | 57,138,437 |
nssv18281686 | Submitted genomic | NC_000011.9:g.(?_5 5171027)_(56905911 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 55,171,027 | 56,905,911 |